Canonical Allele Identifier: CA9263171
Gene: NOTCH3 HGNC NCBI

Linked Data

dbSNP Id: rs777420188
ExAC: 19:15291094 C / T
gnomAD v2: 19-15291094-C-T
gnomAD v3: 19-15180283-C-T
gnomAD v4: 19-15180283-C-T
MyVariant Identifiers: chr19:g.15291094C>T (hg19) chr19:g.15180283C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15180283C>T , CM000681.2:g.15180283C>T GRCh38
NC_000019.9:g.15291094C>T , CM000681.1:g.15291094C>T GRCh37
NC_000019.8:g.15152094C>T NCBI36
NG_009819.1:g.25699G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263388.7:c.3143-27G>A MANE Select ENSP00000263388.1:n.3143-27G>A
ENST00000263388.6:c.3143-27G>A ENSP00000263388.1:n.3143-27G>A
ENST00000601011.1:c.2984-27G>A ENSP00000473138.1:n.2984-27G>A
NM_000435.2:c.3143-27G>A NP_000426.2:n.3143-27G>A
XM_005259924.3:c.2987-27G>A XP_005259981.1:n.2987-27G>A
XM_005259924.4:c.2987-27G>A XP_005259981.1:n.2987-27G>A
NM_000435.3:c.3143-27G>A MANE Select NP_000426.2:n.3143-27G>A
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